How Do You Spell FAMILIAL FORM OF CANAVAN DISEASE?
Pronunciation: [famˈɪlɪəl fˈɔːm ɒv kˈanɐvˌan dɪzˈiːz] (IPA) 
Pronunciation: [famˈɪlɪəl fˈɔːm ɒv kˈanɐvˌan dɪzˈiːz] (IPA)
The Familial Form of Canavan Disease is a rare genetic disorder characterized by the absence or deficient production of an enzyme called aspartoacylase. This enzyme is responsible for breaking down a compound called N-acetyl-L-aspartic acid (NAA) within the brain.
As a result of the enzyme deficiency, NAA accumulates in the brain, leading to the destruction of white matter, which is composed of nerve fibers and myelin, the protective covering of these fibers. This progressive and degenerative condition primarily affects the brain, leading to severe neurological problems.
The symptoms of Familial Canavan Disease typically appear within the first few months of life. Affected infants exhibit developmental delays, loss of previously acquired skills, and a progressive deterioration of motor and cognitive function. They may experience muscle stiffness, abnormal muscle tone, poor muscle control, and difficulty with coordination and balance. Some individuals may also have seizures and vision problems.
The familial form of Canavan disease is inherited in an autosomal recessive pattern, meaning that affected individuals inherit two copies of the mutated gene, one from each parent who carries the gene. The condition is more commonly observed in individuals of Ashkenazi Jewish descent, although it can affect individuals from other ethnic backgrounds as well.
Unfortunately, there is currently no cure for Familial Canavan Disease. Treatment primarily focuses on managing symptoms to improve the individual's quality of life. Supportive care may involve physical therapy, occupational therapy, speech therapy, and medications to control seizures and pain.
